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Article

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia.

PloS one - 1 Jan 2016

Körber Inken, Katayama Shintaro, Einarsdottir Elisabet, Krjutškov Kaarel, Hakala Paula, Kere Juha, Lehesjoki Anna-Elina, Joensuu Tarja

Abstract excerpt

Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1, OMIM254800) is an autosomal recessive neurodegenerative disorder characterized by stimulus-sensitive and action-activated myoclonus, tonic-clonic epileptic seizures, and ataxia. Loss-of-function mutations in the gene encoding the cysteine protease inhibitor cystatin B (CSTB) underlie EPM1. The deficiency of CSTB in mice (Cstb-/- mice) generates a...

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Identifiers

PMID: 27355630
DOI: 10.1371/journal.pone.0158195
PMCID: PMC4927094

Genes

CSTB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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